Canonical Allele Identifier: CA2725231286
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Linked Data

dbSNP Id: rs2136551933

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108332666G>C , CM000673.2:g.108332666G>C GRCh38
NC_000011.9:g.108203393G>C , CM000673.1:g.108203393G>C GRCh37
NC_000011.8:g.107708603G>C NCBI36
NG_009830.1:g.114835G>C , LRG_135:g.114835G>C
NG_054724.1:g.142167C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.7789-96G>C (ATM) ENSP00000388058.2:n.7789-96G>C
ENST00000713593.1:c.*7260-96G>C (ATM) ENSP00000518889.1:n.*7260-96G>C
ENST00000278616.9:c.7789-96G>C (ATM) ENSP00000278616.4:n.7789-96G>C
ENST00000525056.2:n.2208-96G>C (ATM)
ENST00000525537.3:n.1374G>C (ATM)
ENST00000638786.2:n.625+629G>C (ATM)
ENST00000682286.1:n.2546-96G>C (ATM)
ENST00000682302.1:n.2207-96G>C (ATM)
ENST00000683174.1:n.9273-96G>C (ATM)
ENST00000683524.1:n.3013-96G>C (ATM)
ENST00000684152.1:n.3343+1109G>C (ATM)
ENST00000684180.1:n.167G>C (ATM)
ENST00000684447.1:n.3201G>C (ATM)
ENST00000527805.6:c.*2853-96G>C (ATM) ENSP00000435747.2:n.*2853-96G>C
ENST00000675595.1:c.*2924-96G>C (ATM) ENSP00000502563.1:n.*2924-96G>C
ENST00000675843.1:c.7789-96G>C (ATM) MANE Select ENSP00000501606.1:n.7789-96G>C
ENST00000278616.8:c.7789-96G>C (ATM) ENSP00000278616.4:n.7789-96G>C
ENST00000452508.6:c.7789-96G>C (ATM) ENSP00000388058.2:n.7789-96G>C
ENST00000524755.5:c.300-1099C>G (C11orf65)
ENST00000524792.5:n.4004-96G>C (ATM)
ENST00000525729.5:c.641-23595C>G (C11orf65) ENSP00000433395.1:n.641-23595C>G
ENST00000527531.5:c.*1270-1099C>G (C11orf65) ENSP00000431706.1:n.*1270-1099C>G
ENST00000533690.5:n.3193-96G>C (ATM)
ENST00000615746.4:c.*1270-1099C>G (C11orf65) ENSP00000483537.1:n.*1270-1099C>G
NM_000051.3:c.7789-96G>C , LRG_135t1:c.7789-96G>C (ATM) NP_000042.3:n.7789-96G>C
XM_005271414.3:c.*39-1099C>G (C11orf65) XP_005271471.1:n.*39-1099C>G
XM_005271415.3:c.805-1099C>G (C11orf65) XP_005271472.1:n.805-1099C>G
XM_005271561.3:c.7789-96G>C (ATM) XP_005271618.2:n.7789-96G>C
XM_005271562.3:c.7789-96G>C (ATM) XP_005271619.2:n.7789-96G>C
XM_006718843.2:c.7789-96G>C (ATM) XP_006718906.1:n.7789-96G>C
XM_006718845.1:c.3745-96G>C (ATM) XP_006718908.1:n.3745-96G>C
XM_011542840.1:c.7789-96G>C (ATM) XP_011541142.1:n.7789-96G>C
XM_011542841.1:c.7789-96G>C (ATM) XP_011541143.1:n.7789-96G>C
XM_011542842.1:c.7624-96G>C (ATM) XP_011541144.1:n.7624-96G>C
XM_011542843.1:c.7789-96G>C (ATM) XP_011541145.1:n.7789-96G>C
XM_011542844.1:c.6745-96G>C (ATM) XP_011541146.1:n.6745-96G>C
XM_011542845.1:c.6481-96G>C (ATM) XP_011541147.1:n.6481-96G>C
XM_011542847.1:c.2860-96G>C (ATM) XP_011541149.1:n.2860-96G>C
NM_001330368.1:c.641-23595C>G (C11orf65) NP_001317297.1:n.641-23595C>G
NM_001351110.1:c.*38+2554C>G (C11orf65) NP_001338039.1:n.*38+2554C>G
NM_001351834.1:c.7789-96G>C (ATM) NP_001338763.1:n.7789-96G>C
NR_147053.2:n.2375-1099C>G (C11orf65)
XM_005271414.4:c.*39-1099C>G (C11orf65) XP_005271471.1:n.*39-1099C>G
XM_005271415.4:c.805-1099C>G (C11orf65) XP_005271472.1:n.805-1099C>G
XM_005271562.5:c.7789-96G>C (ATM) XP_005271619.2:n.7789-96G>C
XM_006718843.4:c.7789-96G>C (ATM) XP_006718906.1:n.7789-96G>C
XM_006718845.2:c.3745-96G>C (ATM) XP_006718908.1:n.3745-96G>C
XM_011542840.3:c.7789-96G>C (ATM) XP_011541142.1:n.7789-96G>C
XM_011542842.3:c.7624-96G>C (ATM) XP_011541144.1:n.7624-96G>C
XM_011542843.2:c.7789-96G>C (ATM) XP_011541145.1:n.7789-96G>C
XM_011542844.3:c.6745-96G>C (ATM) XP_011541146.1:n.6745-96G>C
XM_011542845.2:c.6481-96G>C (ATM) XP_011541147.1:n.6481-96G>C
XM_017017789.2:c.7789-96G>C (ATM) XP_016873278.1:n.7789-96G>C
XM_017017790.2:c.7789-96G>C (ATM) XP_016873279.1:n.7789-96G>C
NM_001330368.2:c.641-23595C>G (C11orf65) NP_001317297.1:n.641-23595C>G
NM_001351110.2:c.*38+2554C>G (C11orf65) NP_001338039.1:n.*38+2554C>G
NM_001351834.2:c.7789-96G>C (ATM) NP_001338763.1:n.7789-96G>C
NM_000051.4:c.7789-96G>C (ATM) MANE Select NP_000042.3:n.7789-96G>C
NR_147053.3:n.2373-1099C>G (C11orf65)